Canonical Allele Identifier: CA364437480

Gene: PKHD1

Linked Data

• MyVariant Identifiers: chr6:g.51524735G>C (hg19) ; chr6:g.51659937G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51659937G>C , CM000668.2:g.51659937G>C	GRCh38
NC_000006.11:g.51524735G>C , CM000668.1:g.51524735G>C	GRCh37
NC_000006.10:g.51632694G>C	NCBI36
NG_008753.1:g.432689C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.10189C>G MANE Select	ENSP00000360158.3:p.Gln3397Glu
ENST00000371117.7:c.10189C>G	ENSP00000360158.3:p.Gln3397Glu
NM_138694.3:c.10189C>G	NP_619639.3:p.Gln3397Glu
XM_011514679.1:c.10189C>G	XP_011512981.1:p.Gln3397Glu
XM_011514680.1:c.10189C>G	XP_011512982.1:p.Gln3397Glu
XM_011514681.1:c.10060C>G	XP_011512983.1:p.Gln3354Glu
XM_011514682.1:c.10051C>G	XP_011512984.1:p.Gln3351Glu
XM_011514683.1:c.9547C>G	XP_011512985.1:p.Gln3183Glu
XM_011514684.1:c.9478C>G	XP_011512986.1:p.Gln3160Glu
XM_011514687.1:c.10157-10717C>G	XP_011512989.1:n.10157-10717C>G
XM_011514690.1:c.4264C>G	XP_011512992.1:p.Gln1422Glu
XM_011514691.1:c.4264C>G	XP_011512993.1:p.Gln1422Glu
XR_926870.1:n.535+7564G>C
XR_926871.1:n.403+7564G>C
XR_926872.1:n.535+7564G>C
XM_011514680.3:c.10189C>G	XP_011512982.1:p.Gln3397Glu
XM_011514682.3:c.10051C>G	XP_011512984.1:p.Gln3351Glu
XM_011514683.3:c.9547C>G	XP_011512985.1:p.Gln3183Glu
XM_011514684.3:c.9478C>G	XP_011512986.1:p.Gln3160Glu
XM_011514690.3:c.4264C>G	XP_011512992.1:p.Gln1422Glu
XM_011514691.3:c.4264C>G	XP_011512993.1:p.Gln1422Glu
XM_017010944.2:c.10189C>G	XP_016866433.1:p.Gln3397Glu
XM_017010945.2:c.10114C>G	XP_016866434.1:p.Gln3372Glu
XM_017010946.2:c.9994C>G	XP_016866435.1:p.Gln3332Glu
XM_017010947.2:c.9925C>G	XP_016866436.1:p.Gln3309Glu
XM_017010948.2:c.9478C>G	XP_016866437.1:p.Gln3160Glu
XM_017010949.2:c.8329C>G	XP_016866438.1:p.Gln2777Glu
XR_001743469.1:n.10465C>G
XR_001744157.1:n.3145+7564G>C
XR_926870.2:n.3145+7564G>C
XR_926871.2:n.3013+7564G>C
XR_926872.2:n.3145+7564G>C
NM_138694.4:c.10189C>G MANE Select	NP_619639.3:p.Gln3397Glu